G34C (p.Gly34Cys) variant of SHANK1 (Q9Y566)
G34C (p.Gly34Cys) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G34C (p.Gly34Cys) variant details
- p.Gly34Cys
- TOPMed rs1429180159
- gnomAD rs1429180159
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.08
- MetaLR 0.07
- MetaSVM -1.08
- CADD 22.40
- PolyPhen-2 0.71
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available